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Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders

Recent breakthroughs in exome-sequencing technology have made possible the identification of many causal variants of monogenic disorders. Although extremely powerful when closely related individuals (eg, child and parents) are simultaneously sequenced, sequencing of a single case is often unsuccessf...

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Publicat a:Eur J Hum Genet
Autors principals: Brown, Robert, Lee, Hane, Eskin, Ascia, Kichaev, Gleb, Lohmueller, Kirk E, Reversade, Bruno, Nelson, Stanley F, Pasaniuc, Bogdan
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795218/
https://ncbi.nlm.nih.gov/pubmed/25898925
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.68
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